ClinVar Miner

List of variants in gene SMCHD1 reported as likely benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 6
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HGVS dbSNP
NM_015295.2(SMCHD1):c.2424A>C (p.Pro808=) rs374039360
NM_015295.2(SMCHD1):c.2913+6C>G rs186678728
NM_015295.2(SMCHD1):c.333G>A (p.Thr111=) rs761171049
NM_015295.2(SMCHD1):c.3872A>G (p.Asn1291Ser) rs201497685
NM_015295.2(SMCHD1):c.54G>C (p.Glu18Asp) rs779165187
NM_015295.2(SMCHD1):c.925C>G (p.Leu309Val) rs569470518

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